Corneal thickness in the case of familial lecithin-cholesterol acyltransferase deficiency

PURPOSE: We report our findings of a patient with a definitive diagnosis of familial lecithin-cholesterol acyltransferase deficiency (FLD), whose corneal thickness was measured using swept-source optical coherence tomography (OCT) and who underwent an ophthalmologic therapeutic intervention. OBSERVATIONS: The patient was a 78-year-old Japanese man diagnosed with FLD at the age of 52 years. This was his first ever visit to an ophthalmology clinic. Slit lamp microscopy revealed bilateral diffuse corneal opacities and cataracts, angioid streaks of the retina, and macular atrophy in the fundus. The central corneal thickness, measured with swept-source OCT, was within the normal range in both eyes. Deep lamellar keratoplasty, phacoemulsification, and intraocular lens insertion were performed simultaneously for the left eye. The right eye was treated only using deep lamellar keratoplasty. CONCLUSIONS AND IMPORTANCE: As seen in patients with fish-eye disease, the central corneal thickness in this patient with FLD was within the normal range. Since FLD is a rare disease, it is essential to collect and examine further data on corneal thickness.